ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.5954dup (p.Met1985fs)

dbSNP: rs886043213
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000360593 SCV000338961 pathogenic not provided 2016-02-05 criteria provided, single submitter clinical testing
GeneDx RCV000360593 SCV001169094 likely pathogenic not provided 2019-03-06 criteria provided, single submitter clinical testing The c.5954dupT variant in the FREM2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.5954ddupT variant causes a frameshift starting with codon Methionine 1985, changes this amino acid to an Isoleucine residue, and creates a premature Stop codon at position 19 of the new reading frame, denoted p.Met1985IlefsX19. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.5954dupT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.5954dupT as a likely pathogenic variant.
Invitae RCV000360593 SCV003250242 pathogenic not provided 2023-05-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 285788). This variant has not been reported in the literature in individuals affected with FREM2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met1985Ilefs*19) in the FREM2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FREM2 are known to be pathogenic (PMID: 18203166, 26552811).

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